Mutations

PSEN1 P284L

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease, Spastic Paraparesis
Genomic Mutation Name (MET1): g.50036C>T
Genomic Mutation Name (NT1): g.66642C>T
dbSNP ID: rs63750863
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CCA to CTA

Findings

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Further Reading

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Alzheimer Disease & Frontotemporal Dementia Mutation Database

Primary Papers

  1. . Alzheimer's disease with spastic paresis and cotton wool type plaques. J Neurosci Res. 2002 Nov 1;70(3):367-72. PubMed.

Other mutations at this position

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